Double heterozygous mutations ofMITFandPAX3result in Waardenburg syndrome with increased penetrance in pigmentary defects
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01853.x/fullpdf
Reference23 articles.
1. Review and update of mutations causing Waardenburg syndrome;Pingault;Hum Mutat,2010
2. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene;Tassabehji;Nat Genet,1994
3. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene;Tassabehji;Nature,1992
4. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics;Tachibana;Nat Genet,1996
5. Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia;Bertolotto;Mol Cell Biol,1998
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1. Identification of MITF Gene Mutation in Porcupines: A Novel Link to Congenital Deafness and Pigmentation Disorders;2024-08-26
2. Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing;Molecular Genetics & Genomic Medicine;2022-11-04
3. A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome;BMC Medical Genomics;2022-11-03
4. Identification of eight novel variants across PAX3, SOX10, EDNRB and MITF genes in Waardenburg syndrome with next-generation sequencing;2022-01-27
5. Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing;Journal of Clinical Laboratory Analysis;2021-05-04
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